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A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
- Published in:
- Human Genetics, 2001, v. 108, n. 2, p. 91, doi. 10.1007/s004390100461
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- Publication type:
- Article
Electrophysiological Alterations of Pyramidal Cells and Interneurons of the CA1 Region of the Hippocampus in a Novel Mouse Model of Dravet Syndrome.
- Published in:
- Genetics, 2020, v. 215, n. 4, p. 1055, doi. 10.1534/genetics.120.303399
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- Publication type:
- Article
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
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- Genetics, 2017, v. 207, n. 4, p. 1501, doi. 10.1534/genetics.117.300137
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- Publication type:
- Article
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
- Published in:
- Genetics, 2017, v. 207, n. 1, p. 9, doi. 10.1534/genetics.117.203067
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- Publication type:
- Article
Understanding Rare Disease Pathogenesis: A Grand Challenge for Model Organisms.
- Published in:
- 2014
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- Publication type:
- Opinion
RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2247
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- Publication type:
- Article
Genome-wide sequencing technologies: A primer for paediatricians.
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- Paediatrics & Child Health (1205-7088), 2018, v. 23, n. 3, p. 191, doi. 10.1093/pch/pxx152
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- Publication type:
- Article
Precision medicine in rare diseases: What is next?
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- Journal of Internal Medicine, 2023, v. 294, n. 4, p. 397, doi. 10.1111/joim.13655
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- Publication type:
- Article
Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7.
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- Movement Disorders, 2021, v. 36, n. 7, p. 1664, doi. 10.1002/mds.28528
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- Publication type:
- Article
Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
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- Nature Reviews Genetics, 2013, v. 14, n. 10, p. 681, doi. 10.1038/nrg3555
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- Publication type:
- Article
The Human Phenotype Ontology in 2017.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D865, doi. 10.1093/nar/gkw1039
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- Publication type:
- Article
p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 5, p. 449, doi. 10.1111/cge.13618
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- Publication type:
- Article
Clinical delineation of GTPBP2‐associated neuro‐ectodermal syndrome: Report of two new families and review of the literature.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 5, p. 601, doi. 10.1111/cge.13523
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- Publication type:
- Article
Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective.
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- CTS: Clinical & Translational Science, 2018, v. 11, n. 1, p. 11, doi. 10.1111/cts.12501
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- Publication type:
- Article
Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective.
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- CTS: Clinical & Translational Science, 2018, v. 11, n. 1, p. 21, doi. 10.1111/cts.12500
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- Publication type:
- Article
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 743, doi. 10.1002/humu.24364
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- Publication type:
- Article
Cover, Volume 43, Issue 6.
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- Human Mutation, 2022, v. 43, n. 6, p. i, doi. 10.1002/humu.24401
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- Publication type:
- Article
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.
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- Human Mutation, 2022, v. 43, n. 6, p. 659, doi. 10.1002/humu.24373
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- Publication type:
- Article
PhenomeCentral: 7 years of rare disease matchmaking.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 674, doi. 10.1002/humu.24348
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- Publication type:
- Article
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0254-x
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- Publication type:
- Article
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 990, doi. 10.1038/ejhg.2014.236
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- Publication type:
- Article
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 844, doi. 10.1038/ejhg.2013.249
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- Publication type:
- Article
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1144, doi. 10.1038/ejhg.2011.97
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- Publication type:
- Article
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 2, p. 304, doi. 10.1002/ana.26381
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- Publication type:
- Article
Heterozygous De Novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 5, p. 730, doi. 10.1002/ana.26275
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- Publication type:
- Article
OP168 Costs And Effectiveness Of Whole Exome Sequencing (WES) In Patients With Unsolved Rare Disease Through The Diagnostic Pathway.
- Published in:
- 2023
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- Publication type:
- Abstract
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 504, doi. 10.1002/mgg3.223
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- Publication type:
- Article
Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
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- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 312, doi. 10.1002/mgg3.206
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- Publication type:
- Article
Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.
- Published in:
- Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 6, p. 539, doi. 10.1002/mgg3.108
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- Publication type:
- Article
The Deep Genome Project.
- Published in:
- 2020
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- Publication type:
- Editorial
Autosomal recessive cerebellar hypoplasia in the Hutterite population.
- Published in:
- 2005
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- Publication type:
- journal article
Autosomal recessive cerebellar hypoplasia in the Hutterite population.
- Published in:
- Developmental Medicine & Child Neurology, 2005, v. 47, n. 10, p. 691, doi. 10.1017/S0012162205001404
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- Publication type:
- Article
Consent Codes: Upholding Standard Data Use Conditions.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 1, p. 1, doi. 10.1371/journal.pgen.1005772
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- Publication type:
- Article
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
- Published in:
- Nature, 2011, v. 477, n. 7363, p. 211, doi. 10.1038/nature10353
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- Publication type:
- Article
Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the Literature.
- Published in:
- Pediatric & Developmental Pathology, 2019, v. 22, n. 3, p. 258, doi. 10.1177/1093526618787736
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- Publication type:
- Article
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 9, p. 1706, doi. 10.1093/hmg/ddx077
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- Publication type:
- Article
Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 22, p. 6293, doi. 10.1093/hmg/ddv337
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- Publication type:
- Article
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 20, p. R60, doi. 10.1093/hmg/ddv254
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- Publication type:
- Article
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5109, doi. 10.1093/hmg/ddv229
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- Publication type:
- Article
Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping Review.
- Published in:
- PharmacoEconomics, 2023, v. 41, n. 7, p. 803, doi. 10.1007/s40273-023-01262-x
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- Publication type:
- Article
Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02297-7
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- Publication type:
- Article
Very late-onset Sandhoff disease presenting as Kennedy disease.
- Published in:
- 2015
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- Publication type:
- case study
H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.
- Published in:
- 2017
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- Publication type:
- journal article
Loss-of-function mutations in a calcium-channel α<sub>1</sub>-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
- Published in:
- Nature Genetics, 1998, v. 19, n. 3, p. 264, doi. 10.1038/947
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- Publication type:
- Article
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
- Published in:
- 2016
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- Publication type:
- journal article
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41651-6
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- Publication type:
- Article
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 458, doi. 10.1002/ajmg.c.31662
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- Publication type:
- Article
Unsolved recognizable patterns of human malformation: Challenges and opportunities.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 382, doi. 10.1002/ajmg.c.31665
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- Publication type:
- Article
Nablus syndrome: Easy to diagnose yet difficult to solve.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 447, doi. 10.1002/ajmg.c.31660
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- Publication type:
- Article
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
- Published in:
- Epigenetics & Chromatin, 2017, v. 10, p. 1, doi. 10.1186/s13072-017-0118-4
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- Publication type:
- Article